Mutagenetix > Incidental Mutation

Incidental Mutation 'R5683:Cmtm2a'

443187

Institutional Source

Beutler Lab

Gene Symbol

Cmtm2a

Ensembl Gene

ENSMUSG00000074127

Gene Name

CKLF-like MARVEL transmembrane domain containing 2A

Synonyms

Cklf, 1700063K20Rik, 1700001K04Rik, ARR19, 1700041N15Rik, Cklfsf2a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R5683 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105007674-105019813 bp(-) (GRCm39)

Type of Mutation

splice site (498 bp from exon)

DNA Base Change (assembly)

T to C at 105019676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034344] [ENSMUST00000159039] [ENSMUST00000160596] [ENSMUST00000162616] [ENSMUST00000164175] [ENSMUST00000212487] [ENSMUST00000212492]

AlphaFold

Q9DAR1

Predicted Effect

probably benign
Transcript: ENSMUST00000034344
AA Change: I5V

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000034344
Gene: ENSMUSG00000074127
AA Change: I5V

Domain	Start	End	E-Value	Type
transmembrane domain	40	62	N/A	INTRINSIC
transmembrane domain	72	94	N/A	INTRINSIC
transmembrane domain	107	126	N/A	INTRINSIC
transmembrane domain	136	158	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000159039

SMART Domains

Protein: ENSMUSP00000124855
Gene: ENSMUSG00000110430

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	33	70	7.45e-12	PROSPERO
internal_repeat_2	34	74	9.92e-7	PROSPERO
internal_repeat_1	66	103	7.45e-12	PROSPERO
internal_repeat_2	122	162	9.92e-7	PROSPERO
transmembrane domain	190	212	N/A	INTRINSIC
transmembrane domain	227	246	N/A	INTRINSIC
transmembrane domain	253	275	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160596

SMART Domains

Protein: ENSMUSP00000124656
Gene: ENSMUSG00000110430

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	33	70	1.42e-11	PROSPERO
internal_repeat_2	34	74	1.79e-6	PROSPERO
internal_repeat_1	66	103	1.42e-11	PROSPERO
internal_repeat_2	122	162	1.79e-6	PROSPERO
transmembrane domain	262	284	N/A	INTRINSIC
transmembrane domain	289	311	N/A	INTRINSIC
transmembrane domain	315	334	N/A	INTRINSIC
transmembrane domain	341	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162616

SMART Domains

Protein: ENSMUSP00000124800
Gene: ENSMUSG00000031876

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	33	70	1.42e-11	PROSPERO
internal_repeat_2	34	74	1.79e-6	PROSPERO
internal_repeat_1	66	103	1.42e-11	PROSPERO
internal_repeat_2	122	162	1.79e-6	PROSPERO
transmembrane domain	262	284	N/A	INTRINSIC
transmembrane domain	289	311	N/A	INTRINSIC
transmembrane domain	315	334	N/A	INTRINSIC
transmembrane domain	341	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164175

SMART Domains

Protein: ENSMUSP00000132828
Gene: ENSMUSG00000110430

Domain	Start	End	E-Value	Type
low complexity region	7	27	N/A	INTRINSIC
internal_repeat_1	34	71	1.23e-5	PROSPERO
internal_repeat_1	100	137	1.23e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000212487
AA Change: I5V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000212492
AA Change: I5V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	C	11: 72,093,266 (GRCm39)	M22R	probably benign	Het
Acad11	A	G	9: 103,961,482 (GRCm39)	E397G	probably damaging	Het
Actrt3	A	T	3: 30,652,427 (GRCm39)	D222E	probably benign	Het
Akap11	A	T	14: 78,750,018 (GRCm39)	S790T	probably damaging	Het
Arhgap5	T	A	12: 52,566,369 (GRCm39)	D1113E	probably benign	Het
Arl2	C	A	19: 6,184,794 (GRCm39)	R153L	probably benign	Het
B3glct	T	A	5: 149,619,902 (GRCm39)	M19K	probably benign	Het
Ccdc138	C	A	10: 58,376,641 (GRCm39)	Q425K	probably damaging	Het
Ccdc178	T	A	18: 22,263,179 (GRCm39)	K143N	probably benign	Het
Cd200r4	T	A	16: 44,653,311 (GRCm39)	I73K	probably benign	Het
Chaf1b	A	G	16: 93,684,030 (GRCm39)	K94E	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Fnbp4	C	A	2: 90,583,206 (GRCm39)	N277K	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Itsn1	T	C	16: 91,702,268 (GRCm39)	Y37H	probably benign	Het
Kdm8	A	G	7: 125,054,345 (GRCm39)	Y16C	possibly damaging	Het
Kif1b	A	T	4: 149,306,718 (GRCm39)	Y881N	probably damaging	Het
Lhcgr	C	T	17: 89,079,447 (GRCm39)	V80I	probably benign	Het
Lrriq1	T	A	10: 103,009,236 (GRCm39)	L1082F	probably damaging	Het
Met	A	G	6: 17,571,743 (GRCm39)	Y1354C	probably damaging	Het
Nbea	A	G	3: 55,536,007 (GRCm39)	L2859P	possibly damaging	Het
Ndufaf5	T	A	2: 140,044,843 (GRCm39)	M279K	possibly damaging	Het
Nlrp4e	T	C	7: 23,052,697 (GRCm39)	I872T	probably damaging	Het
Npnt	A	T	3: 132,612,601 (GRCm39)		probably null	Het
Nsd1	G	A	13: 55,393,961 (GRCm39)	V521I	probably benign	Het
Or2n1e	G	A	17: 38,586,437 (GRCm39)	M258I	possibly damaging	Het
Pak6	T	A	2: 118,524,393 (GRCm39)	Y469N	probably damaging	Het
Parp4	C	T	14: 56,884,886 (GRCm39)	R1322*	probably null	Het
Pax6	T	C	2: 105,516,252 (GRCm39)	Y177H	probably benign	Het
Pcdhb4	A	T	18: 37,442,042 (GRCm39)	T451S	probably benign	Het
Pcdhgb5	A	T	18: 37,864,907 (GRCm39)	D234V	probably damaging	Het
Pramel11	A	G	4: 143,622,423 (GRCm39)	S311P	probably damaging	Het
Ralb	G	A	1: 119,403,686 (GRCm39)	A147V	possibly damaging	Het
Rgs11	A	G	17: 26,424,155 (GRCm39)	K196E	probably benign	Het
Rnft1	A	T	11: 86,382,616 (GRCm39)	T280S	probably benign	Het
Slco4c1	G	T	1: 96,795,559 (GRCm39)	H166Q	probably damaging	Het
Sycp3	T	C	10: 88,308,797 (GRCm39)	S248P	probably damaging	Het
Tab2	A	G	10: 7,794,876 (GRCm39)		probably null	Het
Tgm6	T	C	2: 129,980,875 (GRCm39)	M224T	probably damaging	Het
Topbp1	A	T	9: 103,190,003 (GRCm39)	E193V	possibly damaging	Het
Trim36	T	C	18: 46,302,359 (GRCm39)	Y551C	probably damaging	Het
Ttc17	T	C	2: 94,192,866 (GRCm39)	Y628C	probably damaging	Het
Vmn1r180	A	C	7: 23,652,635 (GRCm39)	D266A	possibly damaging	Het
Vmn2r104	T	A	17: 20,260,981 (GRCm39)	K481*	probably null	Het
Zc3hav1	A	G	6: 38,284,172 (GRCm39)	V981A	probably damaging	Het

Other mutations in Cmtm2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Cmtm2a	APN	8	105,019,562 (GRCm39)	missense	probably damaging	0.99
IGL00774:Cmtm2a	APN	8	105,019,562 (GRCm39)	missense	probably damaging	0.99
IGL01551:Cmtm2a	APN	8	105,019,286 (GRCm39)	missense	probably damaging	0.98
IGL03410:Cmtm2a	APN	8	105,010,501 (GRCm39)	missense	probably damaging	1.00
R2122:Cmtm2a	UTSW	8	105,019,655 (GRCm39)	missense	possibly damaging	0.55
R4092:Cmtm2a	UTSW	8	105,019,403 (GRCm39)	missense	probably benign	0.08
R5735:Cmtm2a	UTSW	8	105,019,418 (GRCm39)	missense	probably damaging	1.00
R6133:Cmtm2a	UTSW	8	105,019,362 (GRCm39)	missense	probably benign	0.29
R8125:Cmtm2a	UTSW	8	105,019,343 (GRCm39)	missense	probably damaging	1.00
R8195:Cmtm2a	UTSW	8	105,019,670 (GRCm39)	missense	probably benign
R8838:Cmtm2a	UTSW	8	105,008,036 (GRCm39)	missense	probably damaging	0.99
R9001:Cmtm2a	UTSW	8	105,019,376 (GRCm39)	missense	probably benign	0.15
R9219:Cmtm2a	UTSW	8	105,008,101 (GRCm39)	missense	probably damaging	0.99
R9615:Cmtm2a	UTSW	8	105,019,286 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTTCTGAGGACCTCTCCAATC -3'
(R):5'- TGCTGGTCCACTAGATGAGG -3'

Sequencing Primer
(F):5'- TGAGGACCTCTCCAATCCCAAC -3'
(R):5'- CCACTAGATGAGGTGGGCTC -3'

Posted On

2016-11-09